Department of Medicine (DIMED), Surgical Pathology Unit, University of Padua, Padua (PD), Italy.
Medical Oncology, Azienda Ospedaliero-Universitaria Pisana, Pisa (PI), Italy.
Pathologica. 2023 Apr;115(2):71-82. doi: 10.32074/1591-951X-859. Epub 2023 Apr 5.
Cholangiocarcinoma (CCA) is a heterogeneous group of neoplasms burdened by a dismal prognosis. Several studies have investigated the genomic profile of CCA and identified numerous druggable genetic alterations, including fusions/rearrangements. Approximately 5-7% of CCAs and 10-20% of intrahepatic iCCAs harbor fusions. With the recent advent of FGFR-targeting therapies into clinical practice, a standardization of molecular testing for alterations in CCA will be necessary. In this review, we describe the technical aspects and challenges related to testing in routine practice, focusing on the comparison between Next-Generation Sequencing (NGS) and FISH assays, the best timing to perform the test, and on the role of liquid biopsy.
胆管癌（CCA）是一组异质性肿瘤，预后不良。多项研究已经调查了 CCA 的基因组特征，并确定了许多可用药的遗传改变，包括融合/重排。大约 5-7%的 CCA 和 10-20%的肝内 iCCA 存在融合。随着最近 FGFR 靶向治疗进入临床实践，CCA 中 改变的分子检测需要标准化。在这篇综述中，我们描述了常规实践中 检测的技术方面和挑战，重点是下一代测序（NGS）和 FISH 检测之间的比较、进行测试的最佳时间以及液体活检的作用。
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